Genetic Testing Room
Target disease,treatment
Target diseases for genetic testing
- Congenital long QT syndrome (covered by health insurance)
- Marfan syndrome and related aortic diseases (covered by health insurance)
- Brugada syndrome (not covered by health insurance)
- Familial hypercholesterolemia (not covered by health insurance)
- Hereditary pulmonary hypertension (not covered by health insurance)
- Hereditary hemorrhagic telangiectasia (not covered by health insurance)
- Hypertrophic cardiomyopathy (not covered by health insurance)
PCR testing for viruses
- Quantitative PCR testing for cytomegalovirus
- Quantitative PCR testing for Epstein-Barr virus
Principal diagnostic and treatment modalities
- PCR and direct sequencing
- Real-time PCR (TaqMan)
- Disease panels (panels using next-generation sequencing; under development)
Photographs and graphic illustrations of principal diagnostic/treatment modalities
Fig. 1 PCR and direct sequencing
The target gene is amplified using the PCR method, and the DNA sequence alignment is evaluated via direct sequencing to assess for any variant sequence, which is different from the normal sequences mostly found in healthy subjects.
Fig. 2 Real-time PCR (TaqMan) method
Highly sensitive detection (of even an extremely small number) of viral DNA (or RNA) using the TaqMan method enables the commencement of antiviral treatment at an early stage.
last updated : 2021/10/01